Keratoderma, Palmoplantar, with Deafness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Keratoderma, Palmoplantar, with Deafness

MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:

Name: Keratoderma, Palmoplantar, with Deafness ⁵⁶ ⁷³ ¹³

Palmoplantar Keratoderma-Deafness Syndrome ¹² ²⁵ ⁵⁸ ²⁹ ⁶ ¹⁵

Palmoplantar Keratoderma with Deafness ¹² ²⁵ ³⁶ ⁴³ ⁷¹

Palmoplantar Hyperkeratosis-Hearing Loss Syndrome ¹² ²⁵ ⁵⁸

Palmoplantar Keratoderma-Hearing Loss Syndrome ¹² ²⁵ ⁵⁸

Palmoplantar Hyperkeratosis-Deafness Syndrome ¹² ²⁵ ⁵⁸

Ppk-Deafness Syndrome ¹² ²⁵ ⁵⁸

Keratoderma Palmoplantar Deafness ¹² ⁵²

Focal Palmoplantar Keratoderma with Sensorineural Deafness ⁵²

Palmoplantar Keratoderma and Sensorineural Deafness ⁵²

Hereditary Palmoplantar Keratoderma with Deafness ⁵²

Diffuse Palmoplantar Keratoderma with Deafness ⁵²

Keratoderma Palmoplantar, with Deafness ⁵²

Keratoderma Palmoplantar, Deafness ³⁹

Ppk with Deafness ²⁵

Ppkdfn ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , vohwinkel syndrome, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,

HPO:

³¹

keratoderma, palmoplantar, with deafness:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁸

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0111505

OMIM ⁵⁶ 148350

KEGG ³⁶ H00716

MeSH ⁴³ C536152 D007645

SNOMED-CT ⁶⁷ 722203001

MESH via Orphanet ⁴⁴ C536152

ICD10 via Orphanet ³³ Q82.8

UMLS via Orphanet ⁷² C1835672

Orphanet ⁵⁸ ORPHA2202

MedGen ⁴¹ C1835672

SNOMED-CT via HPO ⁶⁸ 103276001 15188001 263681008 more

UMLS ⁷¹ C1835672

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Summaries for Keratoderma, Palmoplantar, with Deafness

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2202 Definition Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype . The disease is transmitted in an autosomal dominant manner with incomplete penetrance . Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma-deafness syndrome, is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant and nonsyndromic hearing loss and deafness, dfna3. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma

Disease Ontology : ¹² A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has material basis in heterozygous mutation in GJB2 on chromosome 13q12.11.

Genetics Home Reference : ²⁵ Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds. The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.

KEGG : ³⁶ Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome.

UniProtKB/Swiss-Prot : ⁷³ Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.

More information from OMIM: 148350

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Related Diseases for Keratoderma, Palmoplantar, with Deafness

Diseases related to Keratoderma, Palmoplantar, with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)

#	Related Disease	Score	Top Affiliating Genes
1	keratitis-ichthyosis-deafness syndrome, autosomal dominant	31.8	GJB6 GJB2 GJA1
2	nonsyndromic hearing loss and deafness, dfna3	30.7	GJB6 GJB2
3	palmoplantar keratoderma, epidermolytic	30.2	GJB3 GJB2
4	nonsyndromic hearing loss	30.1	GJB6 GJB3 GJB2
5	autosomal dominant non-syndromic sensorineural deafness type dfna	30.0	GJB6 GJB3 GJB2
6	deafness, autosomal dominant 3a	29.7	GJB6 GJB4 GJB3 GJB2
7	vohwinkel syndrome	29.7	GJB6 GJB4 GJB3 GJB2
8	palmoplantar keratosis	29.6	GJB6 GJB4 GJB3 GJB2 GJA1
9	sensorineural hearing loss	29.5	MT-TS1 GJB6 GJB3 GJB2
10	autosomal recessive non-syndromic sensorineural deafness type dfnb	29.5	GJB6 GJB3 GJB2 GJA1
11	skin disease	29.0	GJB6 GJB4 GJB3 GJB2 GJA1
12	deafness, autosomal recessive 1a	28.2	GJB6 GJB4 GJB3 GJB2 GJA3 CRYL1
13	branchiootic syndrome 1	10.5
14	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
15	focal palmoplantar keratoderma	10.3
16	hereditary palmoplantar keratoderma	10.3
17	keratosis	10.3
18	nonsyndromic hearing loss and deafness, mitochondrial	10.3
19	purulent labyrinthitis	10.2	GJB6 GJB2
20	deafness, neural, with atypical atopic dermatitis	10.2
21	deafness, nonsyndromic sensorineural, mitochondrial	10.2
22	deafness, autosomal dominant nonsyndromic sensorineural 3	10.2
23	diffuse palmoplantar keratoderma	10.2
24	viral labyrinthitis	10.2	GJB6 GJB2
25	congenital cytomegalovirus	10.1	GJB6 GJB2
26	deafness, autosomal dominant 2b	10.1	GJB3 GJB2
27	deafness, aminoglycoside-induced	10.1	MT-TS1 GJB2
28	deafness, autosomal recessive 91	10.1	GJB3 GJB2
29	deafness, autosomal dominant 2a	10.0	GJB3 GJB2
30	deafness, autosomal dominant 9	10.0	GJB3 GJB2
31	hypotrichosis-deafness syndrome	9.9	GJB4 GJB3 GJB2
32	drug-induced hearing loss	9.9	MT-TS1 GJB3 GJB2
33	leukodystrophy, hypomyelinating, 2	9.9	GJB4 GJA1
34	nonsyndromic hearing loss and deafness, dfnb1	9.9	GJB6 GJB3 GJB2
35	dfnb1	9.9	GJB6 GJB3 GJB2
36	deafness, autosomal dominant 3b	9.9	GJB6 GJB3 GJB2
37	nevus, epidermal	9.9	GJB4 GJB3 GJB2
38	vestibular disease	9.9	GJB6 GJB3 GJB2
39	pendred syndrome	9.9	GJB6 GJB2
40	deafness, x-linked 2	9.8	GJB6 GJB3 GJB2
41	auditory system disease	9.8	GJB6 GJB3 GJB2
42	ichthyosis	9.8	GJB6 GJB2 GJA1
43	inner ear disease	9.8	GJB6 GJB3 GJB2
44	keratitis, hereditary	9.7	GJB6 GJB2
45	hallermann-streiff syndrome	9.7	GJA3 GJA1
46	x-linked nonsyndromic deafness	9.6	MT-TS1 GJB6 GJB3 GJB2
47	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	9.6	MT-TS1 GJB6 GJB3 GJB2
48	autosomal dominant nonsyndromic deafness	9.6	MT-TS1 GJB6 GJB3 GJB2
49	palmoplantar keratoderma and congenital alopecia 1	9.5	GJB4 GJB3 GJB2 GJA1
50	erythrokeratoderma	9.5	GJB4 GJB3 GJB2 GJA1

Graphical network of the top 20 diseases related to Keratoderma, Palmoplantar, with Deafness:

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Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Deafness

Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:

⁵⁸ ³¹

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	sensorineural hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000407
2	palmoplantar keratoderma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000982
3	hearing impairment ³¹			HP:0000365
4	hyperkeratosis ⁵⁸		Very frequent (99-80%)
5	palmoplantar hyperkeratosis ³¹			HP:0000972

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skin Nails Hair Skin:
palmoplantar hyperkeratosis

Head And Neck Ears:
hearing loss, high frequency, slowly progressive (onset in early childhood)

Clinical features from OMIM:

148350

MGI Mouse Phenotypes related to Keratoderma, Palmoplantar, with Deafness:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	8.92	GJA1 GJB2 GJB3 GJB6

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Drugs & Therapeutics for Keratoderma, Palmoplantar, with Deafness

Search Clinical Trials , NIH Clinical Center for Keratoderma, Palmoplantar, with Deafness

Cochrane evidence based reviews: palmoplantar keratoderma with deafness

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Genetic Tests for Keratoderma, Palmoplantar, with Deafness

Genetic tests related to Keratoderma, Palmoplantar, with Deafness:

#	Genetic test	Affiliating Genes
1	Palmoplantar Keratoderma-Deafness Syndrome ²⁹	GJB2

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Anatomical Context for Keratoderma, Palmoplantar, with Deafness

MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Deafness:

⁴⁰

Skin

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Publications for Keratoderma, Palmoplantar, with Deafness

Articles related to Keratoderma, Palmoplantar, with Deafness:

(show all 24)

#	Title	Authors	PMID	Year
1	The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. ⁵⁶ ⁶	Uyguner O...Wollnik B	12372058	2002
2	A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). ⁵⁶ ⁶	Heathcote K...Patton MA	10633135	2000
3	A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. ⁵⁶ ⁶¹	de Zwart-Storm EA...van Steensel MA	17993581	2008
4	The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. ⁶¹ ⁶	Feldmann D...Marlin S	16059934	2005
5	Hereditary palmoplantar keratoderma with deafness. ⁵⁶ ⁶¹	Fitzgerald DA...Verbov JL	8736341	1996
6	Diffuse palmoplantar keratoderma with deafness. ⁶¹ ⁶	Hatamochi A...Iuchi I	6213205	1982
7	Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. ⁶	Piazza V...Cassandro E	15996214	2005
8	Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. ⁶	Hutchin TP...Mueller RF	11175301	2001
9	Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. ⁶	Martin L...Vaillant L	11069477	2000
10	Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. ⁶	Denoyelle F...Petit C	10218527	1999
11	The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. ⁶	Guan MX...Attardi G	9742104	1998
12	Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. ⁶	Sevior KB...Maw MA	9450881	1998
13	Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. ⁵⁶	Kelsell DP...Leigh IM	9139825	1997
14	Mitochondrial mutation associated with nonsyndromic deafness. ⁶	Fischel-Ghodsian N...Maw M	8572257	1995
15	Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness. ⁶	Reid FM...Jacobs HT	7987332	1994
16	A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. ⁶	Reid FM...Jacobs HT	8019558	1994
17	Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. ⁵⁶	Sharland M...Patton MA	1532426	1992
18	Palmoplantar keratoderma, deafness and atopy. ⁵⁶	Verbov J	2956987	1987
19	Sequence and organization of the human mitochondrial genome. ⁶	Anderson S...Young IG	7219534	1981
20	Familial hereditary, progressive sensori-neural hearing loss with keratosis palmaris and plantaris. ⁶	Bititci OO	127819	1975
21	Connexin channels in congenital skin disorders. ⁶¹	Lilly E...White TW	26775130	2016
22	Overview of skin diseases linked to connexin gene mutations. ⁶¹	Avshalumova L...Koriakos A	23675785	2014
23	Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. ⁶¹	Birkenhager R...Arndt S	20583176	2010
24	A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. ⁶¹	de Zwart-Storm EA...van Steensel MA	18787097	2008

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Genes for Keratoderma, Palmoplantar, with Deafness

Genes related to Keratoderma, Palmoplantar, with Deafness (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GJB2	Gap Junction Protein Beta 2	Protein Coding	1675.39	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16059934 15996214 10633135 (more) 10218527 12372058
2	MT-TS1	Mitochondrially Encoded TRNA-Ser (UCN) 1	RNA Gene	750	Pathogenic ⁶ Causative germline mutation ⁵⁸	6213205 11069477 9742104 (more) 8019558 7987332 7219534 9450881 127819 11175301 8572257
3	GJB4	Gap Junction Protein Beta 4	Protein Coding	7.45	DISEASES inferred ¹⁵
4	GJB6	Gap Junction Protein Beta 6	Protein Coding	7.3	DISEASES inferred ¹⁵
5	GJB3	Gap Junction Protein Beta 3	Protein Coding	6.85	DISEASES inferred ¹⁵
6	GJA1	Gap Junction Protein Alpha 1	Protein Coding	6.24	DISEASES inferred ¹⁵
7	DYNC1I2	Dynein Cytoplasmic 1 Intermediate Chain 2	Protein Coding	5.5	DISEASES inferred ¹⁵
8	GJA3	Gap Junction Protein Alpha 3	Protein Coding	5.37	DISEASES inferred ¹⁵
9	CRYL1	Crystallin Lambda 1	Protein Coding	5.18	DISEASES inferred ¹⁵

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Variations for Keratoderma, Palmoplantar, with Deafness

ClinVar genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

⁶ (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MT-TS1	NC_012920.1:m.7445A>G	SNV	Pathogenic	9563	rs199474818	MT:7445-7445	MT:7445-7445
2	GJB2	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	SNV	Pathogenic	17000	rs35887622	13:20763620-20763620	13:20189481-20189481
3	GJB2	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	SNV	Pathogenic	17001	rs80338944	13:20763490-20763490	13:20189351-20189351
4	GJB2	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	SNV	Pathogenic	17002	rs104894396	13:20763650-20763650	13:20189511-20189511
5	GJB2	NM_004004.6(GJB2):c.35del (p.Gly12fs)	deletion	Pathogenic	17004	rs80338939	13:20763686-20763686	13:20189547-20189547
6	GJB2	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	SNV	Pathogenic	17005	rs104894398	13:20763582-20763582	13:20189443-20189443
7	GJB2	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	SNV	Pathogenic	17009	rs80338948	13:20763294-20763294	13:20189155-20189155
8	GJB2	NM_004004.6(GJB2):c.167del (p.Leu56fs)	deletion	Pathogenic	17010	rs80338942	13:20763554-20763554	13:20189415-20189415
9	GJB2	NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	SNV	Pathogenic	17027	rs28931593	13:20763497-20763497	13:20189358-20189358
10	GJB2	NM_004004.6(GJB2):c.176G>C (p.Gly59Ala)	SNV	Pathogenic	17015	rs104894404	13:20763545-20763545	13:20189406-20189406
11	GJB2	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	SNV	Pathogenic	17023	rs72474224	13:20763612-20763612	13:20189473-20189473
12	GJB2	NM_004004.6(GJB2):c.-23+1G>A	SNV	Pathogenic	17029	rs80338940	13:20766921-20766921	13:20192782-20192782
13	GJB2	NM_004004.6(GJB2):c.218A>G (p.His73Arg)	SNV	Pathogenic	17037	rs121912968	13:20763503-20763503	13:20189364-20189364
14	GJB2	NM_004004.6(GJB2):c.1A>G (p.Met1Val)	SNV	Pathogenic	44729	rs111033293	13:20763720-20763720	13:20189581-20189581
15	GJB2	NM_004004.6(GJB2):c.175G>C (p.Gly59Arg)	SNV	Pathogenic	496215	rs104894410	13:20763546-20763546	13:20189407-20189407
16	GJB2	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	SNV	Pathogenic	44763	rs111033294	13:20763104-20763104	13:20188965-20188965
17	GJB2	NM_004004.6(GJB2):c.66G>T (p.Lys22Asn)	SNV	Pathogenic	242831	rs879253741	13:20763655-20763655	13:20189516-20189516
18	GJB2	NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	SNV	Pathogenic	265481	rs774518779	13:20763215-20763215	13:20189076-20189076
19	GJB2	NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	SNV	Pathogenic/Likely pathogenic	163514	rs727503066	13:20763342-20763342	13:20189203-20189203
20	GJB2	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	SNV	Pathogenic/Likely pathogenic	188830	rs104894413	13:20763590-20763590	13:20189451-20189451
21	GJB2	NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	SNV	Pathogenic/Likely pathogenic	550195	rs371024165	13:20763627-20763627	13:20189488-20189488
22	GJB2	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	SNV	Pathogenic/Likely pathogenic	44735	rs111033299	13:20763438-20763438	13:20189299-20189299
23	GJB2	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	SNV	Likely pathogenic	44740	rs104894408	13:20763687-20763687	13:20189548-20189548
24	GJB2	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	SNV	Conflicting interpretations of pathogenicity	44749	rs76434661	13:20763305-20763305	13:20189166-20189166
25	GJB2	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	SNV	Conflicting interpretations of pathogenicity	17016	rs80338945	13:20763452-20763452	13:20189313-20189313
26	GJB2	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	SNV	Conflicting interpretations of pathogenicity	17007	rs80338950	13:20763170-20763170	13:20189031-20189031
27	GJB2	NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	SNV	Uncertain significance	44764	rs375599392	13:20763058-20763058	13:20188919-20188919
28	GJB2	NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	SNV	Uncertain significance	44765	rs111033194	13:20763051-20763051	13:20188912-20188912
29	GJB2	NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	SNV	Uncertain significance	177751	rs727504309	13:20763533-20763533	13:20189394-20189394

UniProtKB/Swiss-Prot genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	GJB2	p.Arg75Trp	VAR_002140	rs104894402
2	GJB2	p.Asp66His	VAR_008710	rs104894403
3	GJB2	p.Gly59Ala	VAR_009965	rs104894404
4	GJB2	p.Arg75Gln	VAR_015936	rs28931593
5	GJB2	p.His73Arg	VAR_060799	rs121912968

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Expression for Keratoderma, Palmoplantar, with Deafness

Search GEO for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.

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Pathways for Keratoderma, Palmoplantar, with Deafness

Pathways related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Vesicle-mediated transport ⁶⁵ Show member pathways Membrane Trafficking ⁶⁵	12.8	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1
2	G-Beta Gamma Signaling ⁶³ Show member pathways CRHR Pathway ⁶³ GHRH Signaling ⁶³ Hedgehog Signaling in Mammals ⁶³ Relaxin Pathway ⁶³ Signaling in Gap Junctions ⁶³	12.6	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1
3	Development Slit-Robo signaling ²² Show member pathways Cell adhesion Gap junctions ²² Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ¹	12.03	GJB3 GJB2 GJA3 GJA1
4	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	11.92	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1
5	Gap junction trafficking ⁶⁵ Show member pathways Entry of Influenza Virion into Host Cell via Endocytosis ⁶⁵ Formation of annular gap junctions ⁶⁵ Gap junction assembly ⁶⁵ Gap junction degradation ⁶⁵ Gap junction trafficking and regulation ⁶⁵	11.09	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1
6	Transport of connexins along the secretory pathway ⁶⁵ Show member pathways Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane ⁶⁵ Oligomerization of connexins into connexons ⁶⁵ Transport of connexons to the plasma membrane ⁶⁵	10.32	GJB2 GJA1

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GO Terms for Keratoderma, Palmoplantar, with Deafness

Cellular components related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:0030054	9.63	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1
2	gap junction	GO:0005921	9.43	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1
3	connexin complex	GO:0005922	9.1	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1

Biological processes related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	9.85	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1
2	cell-cell signaling	GO:0007267	9.63	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1
3	response to lipopolysaccharide	GO:0032496	9.61	GJB6 GJB2 GJA1
4	response to ischemia	GO:0002931	9.52	GJB2 GJA1
5	inner ear development	GO:0048839	9.51	GJB6 GJB2
6	gap junction assembly	GO:0016264	9.5	GJB6 GJB2 GJA1
7	response to retinoic acid	GO:0032526	9.49	GJB2 GJA1
8	maintenance of permeability of blood-brain barrier	GO:0035633	9.48	GJB6 GJA1
9	decidualization	GO:0046697	9.46	GJB2 GJA1
10	cell communication by electrical coupling	GO:0010644	9.43	GJB6 GJB2 GJA1
11	epididymis development	GO:1905867	9.4	GJB2 GJA1
12	gap junction-mediated intercellular transport	GO:1990349	9.26	GJB6 GJB4 GJB2 GJA3
13	cell communication	GO:0007154	9.1	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1

Molecular functions related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	gap junction hemi-channel activity	GO:0055077	9.16	GJA3 GJA1
2	gap junction channel activity involved in cell communication by electrical coupling	GO:1903763	9.13	GJB6 GJB2 GJA1
3	gap junction channel activity	GO:0005243	9.1	GJB6 GJB4 GJB3 GJB2 GJA3 GJA1

Sources

Sources for Keratoderma, Palmoplantar, with Deafness

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Keratoderma, Palmoplantar, with Deafness (PPKDFN)

Aliases & Classifications for Keratoderma, Palmoplantar, with Deafness

MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Keratoderma, Palmoplantar, with Deafness

Related Diseases for Keratoderma, Palmoplantar, with Deafness

Diseases related to Keratoderma, Palmoplantar, with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Keratoderma, Palmoplantar, with Deafness:

Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Deafness

Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Keratoderma, Palmoplantar, with Deafness:

Drugs & Therapeutics for Keratoderma, Palmoplantar, with Deafness

Cochrane evidence based reviews: palmoplantar keratoderma with deafness

Genetic Tests for Keratoderma, Palmoplantar, with Deafness

Genetic tests related to Keratoderma, Palmoplantar, with Deafness:

Anatomical Context for Keratoderma, Palmoplantar, with Deafness

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Publications for Keratoderma, Palmoplantar, with Deafness

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Genes for Keratoderma, Palmoplantar, with Deafness

Genes related to Keratoderma, Palmoplantar, with Deafness (2 elite genes):

Variations for Keratoderma, Palmoplantar, with Deafness

ClinVar genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

UniProtKB/Swiss-Prot genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

Expression for Keratoderma, Palmoplantar, with Deafness

Pathways for Keratoderma, Palmoplantar, with Deafness

Pathways related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

GO Terms for Keratoderma, Palmoplantar, with Deafness

Cellular components related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

Biological processes related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

Molecular functions related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

Sources for Keratoderma, Palmoplantar, with Deafness